S14Y (p.Ser14Tyr) variant of NTRK1 (P04629)
S14Y (p.Ser14Tyr) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
S14Y (p.Ser14Tyr) variant details
- p.Ser14Tyr
- rs1403617672
- gnomAD 1-156842166-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.98
- MetaLR 0.77
- MetaSVM 0.80
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available